Building the case for a closer look at known heart-disease genes

23/01/2019

Centenary
Institute scientists have conducted a study which could change how researchers
discover the causes of genetic heart disease.

At the moment,
the bulk of genetic testing focuses on the protein-coding
sections of DNA to look for disease-causing variants. However, these
protein-coding regions only make up about two-per-cent of our entire DNA
sequence.

In a study
published in scientific journal Circulation:
Genomic and Precision Medicine, researchers in Centenary’s Molecular
Cardiology Program screened 500 families affected by hypertrophic
cardiomyopathy – a common genetic heart condition which occurs when the heart
muscle thickens, making it difficult to pump blood.

The researchers focused on one of the main disease-causing genes, known as MYBPC3, and discovered they were able to attribute the cause of hypertrophic cardiomyopathy in four families to a variant found in the non-coding region of the DNA.

First-time Lead
Author Emma Singer says while on the surface, it may appear to be a small
breakthrough, it’s still important for patients affected by genetic heart
disease.

“This study makes
a major difference for those four families who otherwise would not have known
the cause of their heart condition, which in some cases, can be fatal,” says
Emma.

Senior Researcher
Dr Richard Bagnall is hopeful the study will help re-direct the broader focus
of genetic heart disease research.

“We would
consider this a pilot study, so we are hoping our results will encourage other researchers
to undertake a similar approach in larger cohorts of patients with other known disease-causing
genes.

“This study demonstrates why we need to be looking at the known genes more closely and more carefully – because we’re finding that we’re having a lot more success that way, rather than trying to find a new gene altogether that causes disease.”